The Carey-Fineman-Ziter syndrome is a malformation syndrome, which is characterized by decreased muscle tone and is transmitted as an autosomal recessive trait. Since only 20 cases have been documented since the first description, the cause of the disease could not yet be determined. A causal therapy for the syndrome does not yet exist.
What is Carey-Fineman-Ziter Syndrome?
There is a group of congenital malformation syndromes that is predominantly characterized by involvement of the face. One disease from this group of diseases is Carey-Fineman-Ziter syndrome. The symptom complex is also known as myopathy-Moebis-Robin syndrome and occurs extremely rarely. Medicine only suspects one case in a million people.
Towards the end of the 20th century Carey, Fineman and Ziter described the symptom complex consisting of decreased muscle tone, bilateral facial paralysis and disruption of eye abduction for the first time. The syndrome is named in honor of the person who first described it. So far, only a few cases of Carey-Fineman-Ziter syndrome have been documented since it was first described.
Detailed data are available for fewer than 20 cases. For this reason, the state of research is not fully developed. Many connections and, above all, the causes of the symptom complex have not yet been conclusively clarified. The symptoms of Carey-Fineman-Ziter syndrome have a wide range of clinical characteristics and are present from birth.
Carey-Fineman-Ziter syndrome does not appear to be sporadic. A hereditary basis has been observed in the previous cases. The familial accumulation of the syndrome seems to be based on an autosomal recessive inheritance. Of the existing cases, two were sibling pairs. The risk of repetition for parents with an affected child, based on siblings, is less than 25 percent.
The symptom complex of those affected seems to be caused by malformations in the peripheral and central nerve tissue. The reduced muscle tone in particular has now been causally associated with non-specific myopathic anomalies and central brain malformations. The primary causes of these malformations have not yet been clarified.
At the moment, one can only speculate about a genetic mutation after exposure to toxins, trauma or similar influencing factors. Just like the primary causes, it has so far not been possible to identify the genes whose mutation is the cause of the undesirable developments.
Symptoms, ailments & signs
The clinical characteristics of patients with Carey-Fineman-Ziter syndrome include the so-called Moebius sequence and the Pierre Robin sequence, in addition to the greatly reduced muscle tone in the sense of muscle hypotonia. The first phenomenon is a congenital and bilateral paralysis of the facial nerve fascial nerve, which is accompanied by an impaired abduction of both eyeballs.
The Pierre Robinson sequence, on the other hand, is a micro-genius that is associated with a glossoptosis, an extremely high palate and a cleft palate. In addition to these symptoms, patients with Carey-Fineman-Ziter syndrome have extremely noticeable faces. Growth retardation rounds off the symptom complex.
Concomitant symptoms can be various anomalies of the brain. The abnormalities sometimes correspond to ventriculomegaly. In other cases the white matter is reduced or heterotypes and small necrosis foci with calcifications are present. Just as often, abnormalities such as a reduced bridge and brainstem with hyperplastic ponto-cerebellar and pre-pontine cisterns were discovered in the patient’s brain.
In addition, the patients often suffer from Poland Syndrome. Hypospadias or clubfoot are just as common. In patients with nonspecific myopathy, severe scoliosis can develop over time. Laryngostenosis or the tendency to unexplained high-pressure crises with a bright red face and sweating can also make up the syndrome.
In some cases, hydronephrosis was also observed. In most cases the patients are not mentally retarded, but in individual cases a decrease in intelligence has been observed. In addition, gastrointestinal disorders, which can be associated with villus atrophy, are rare.
Diagnosis & course
The diagnosis of Carey-Fineman-Ziter syndrome can be made in the form of a suspected diagnosis by visual diagnosis, as the clinical symptoms are extremely characteristic. Magnetic resonance imaging is usually used to provide evidence of the brain anomalies and to secure the suspected diagnosis in this way.
The prognosis depends on the severity of the individual case. A lethal course is conceivable, but generally not the rule. In the past, secondary diseases such as restrictive pulmonary disease have had lethal consequences.
Unfortunately, it is not possible to treat Carey-Fineman-Ziter syndrome, so the patient has to live with the malformations his entire life. It is therefore only possible to limit the symptoms so that the quality of life of the person concerned increases. The malformations usually lead to severe paralysis of the face, which also affects the eyeballs.
There is also delayed growth in children. In many cases, the patients experience unreasonable sweats that appear with severe facial flushing. The malformations can lead to teasing and bullying, especially in children, which can also lead to depression.
In rare cases, the intelligence is also affected, so that the children suffer from underdevelopment and thus from retardation. This is not reversible, which means that in many cases the patient is dependent on outside help. Since Carey-Fineman-Ziter syndrome cannot be treated directly, the therapy is primarily aimed at the restricted mobility.
Speech disorders can also be looked after by a speech therapist so that the person affected can communicate unhindered. The treatment itself does not lead to any further complications. In many cases, the parents are also under great psychological stress.
When should you go to the doctor?
In the case of Carey-Fineman-Ziter syndrome, a visit to a doctor is necessary if the person concerned shows muscle atrophy or cannot generate muscle tension. As a rule, these complaints are already noticeable in early childhood, so that the parents in particular have to initiate an examination and treatment. Paralysis in various parts of the body and especially on the face must also be examined. A cleft palate can also indicate Carey-Fineman-Ziter syndrome.
The children suffer from retarded growth as well as retarded development. Those affected must be given special support in order to be able to lead an ordinary life in adulthood. A visit to the doctor is also necessary in the case of an intellectual disability. The diagnosis is usually made by a pediatrician or a general practitioner. Since direct treatment is not possible, the person affected is dependent on various therapies. In many cases, the parents or relatives also suffer from psychological complaints, so that they need psychological treatment.
Treatment & Therapy
Since neither the primary causes nor the genetic factors of Carey-Fineman-Ziter syndrome have been clarified, there is no causal therapy for those affected. The complex of symptoms can only be treated symptomatically. The therapy is based on the symptoms in each individual case. For example, in one case, scoliosis in an adolescent patient was treated by the implantation of a rod.
If there is a reduction in intelligence, early intervention can again be considered to remedy deficiencies. The paralysis of the face can cause speech disorders that can be improved with speech therapy. The reduced muscle tone can make physiotherapeutic care necessary and can possibly be compensated for by targeted muscle training.
Above all, the supportive therapy options require close cooperation with the parents of the children concerned. Psychotherapeutic care can be recommended to the parents to support and come to terms with their experiences. Genetic counseling of parents can also be useful in order to educate them about the risk of recurrence in future children.
Outlook & forecast
Since Carey-Fineman-Ziter syndrome has a number of malformations and malformations due to genetic errors, these can only be treated symptomatically. A causal and causal treatment cannot be carried out.
Those affected also suffer from a marked delay in growth and child development. Paralysis and reduced intelligence continue to occur, so that those affected depend on the help of other people their entire life. Speech therapy and physical therapy support can alleviate some of the symptoms, so that the quality of life of those affected increases.
However, complete healing is not achieved. Carey-Fineman-Ziter syndrome usually does not have a negative impact on life expectancy. Genetic counseling with the parents can be useful in order to avoid recurrence of the syndrome in another child. The syndrome often leads to psychological moods or even depression in parents and relatives.
In Carey-Fineman-Ziter syndrome, the therapy itself is tailored to the individual case, as the symptoms can be very different. In any case, loving support for the patient has a positive effect on the course of the disease.
To date, insufficient cases of Carey-Fineman-Ziter syndrome have been documented to unequivocally determine the primary causes of the disease. As the causes are not known, no preventive measures are currently in place.
Since Carey-Fineman-Ziter syndrome is a genetic disorder, a complete cure is usually not possible. For this reason, direct follow-up care cannot be carried out for this disease. However, those affected are dependent on lifelong therapy in order to alleviate the symptoms and thus maintain a certain quality of life.
The delayed development can be treated with intensive support for the patient. Above all, parents and relatives of the patient are asked to help the child develop. Reduced intelligence can also be alleviated as a result.
As a rule, however, those affected are always dependent on outside help in their everyday life and cannot easily cope with it alone. Since Carey-Fineman-Ziter syndrome can also lead to psychological complaints or moods, psychological counseling and treatment is also recommended.
Parents and relatives can also take part in this treatment, as they too suffer from the consequences of Carey-Fineman-Ziter syndrome. If you want to have children again, genetic counseling can be carried out so that the recurrence of Carey-Fineman-Ziter syndrome may be avoided. The life expectancy of the patient is usually not negatively affected by the disease.
You can do that yourself
Carey-Fineman-Ziter syndrome is an extremely rare disease. According to the current state of knowledge, neither the debt medicine nor the patient himself can take measures to combat the cause of the disease. Since the disorder is very likely to be inherited, couples who have had the syndrome in their families should seek advice prior to family planning.
The symptoms of Carey-Fineman-Ziter syndrome show up from birth. Those affected mainly suffer from their unusual external appearance and reduced muscle tone, which often restricts mobility and motor skills. The latter can often be positively influenced by physiotherapy, which is more successful the earlier it is started.
Parents should therefore insist that their child receive optimal support as early as possible. This also applies to impairments in speech development, which can usually be traced back to the facial paralysis typical of the syndrome. A speech therapist should therefore be consulted, if possible as soon as the patient begins to learn to speak. Appropriate speech therapy can compensate for the impairments caused by muscle paralysis.
The disease is usually equally demanding for parents and children, whereby in addition to the symptoms of the disorder, the reactions of the environment can also be extremely stressful. Children who are teased by their peers about their appearance and speech impairment can develop depression quickly. Parents should therefore seek professional psychological care for their child and, if necessary, for themselves at an early stage.